Nomogram to Diagnose Familial Combined Hyperlipidemia on the Basis of Results of a 5-Year Follow-Up Study

Abstract

Background-Familial combined hyperlipidemia (FCH) is traditionally diagnosed by total plasma cholesterol and/or triglyceride levels above the 90th percentile adjusted for age and gender. In a recent study, we showed that the diagnosis of FCH on the basis of these diagnostic criteria was inconsistent in 26% of the subjects over a 5-year period. This result emphasizes the need for reevaluation of the diagnostic criteria for FCH. Methods and Results-A total of 32 families (299 subjects) were studied in 1994 and 1999. A subject was defined "truly" FCH when diagnosed FCH in 1994 and/or 1999 on the basis of traditional plasma lipid criteria. Additional lipid and lipoprotein parameters, including apolipoprotein B (apoB) and small, dense LDL, were measured at both time points. In total, 121 subjects (40%) were defined as truly FCH. Multivariate analysis revealed that absolute apoB values combined with triglyceride and total cholesterol levels adjusted for age and gender best predicted truly FCH. A nomogram including these parameters is provided to simply and accurately calculate the probability to be affected by FCH. Furthermore, it is shown that when percentiles of triglyceride and total cholesterol adjusted for age and gender are not available in a population, the definition of FCH can be established on the basis of hypertriglyceridemia (Ͼ1.5 mmol/L) and hyper-apoB (Ͼ1200 mg/L). Conclusions-The diagnosis of FCH is best predicted by absolute apoB levels combined with triglyceride and total cholesterol levels adjusted for age and gender and can accurately be calculated by a nomogram. This definition is also a good predictor of cardiovascular risk in

Effect of rosuvastatin on insulin sensitivity in patients with familial combined hyperlipidaemia

“…Studies were performed in 18 FCH patients. FCH diagnosis was based on the nomogram as recently published by our group [17]. In addition, all participants met the following criteria: age 30–70 years; liver enzyme analysis (alkaline phosphatase, AST and ALT) ≤ 1·5 × upper limit of normal reference values and the calculated creatinine clearance had to be > 100 mL min −1 .…”

“…Furthermore, it comprises a variable expression of elevated levels of serum total cholesterol (TC), TG and/or apolipoprotein B (apo B). In addition, other traits of FCH that have been proposed to contribute to accelerated atherosclerosis in vivo are a decreased HDL cholesterol and the presence of small, dense low‐density lipoprotein (LDL) particles that are more prone to oxidative modification [16,17]. Finally, an increased low‐grade arterial wall inflammation (as represented by TNF‐axis activation) [14] might contribute to the increased cardiovascular risk.…”

Associations among Race/Ethnicity, ApoC-III Genotypes, and Lipids in HIV-1-Infected Individuals on Antiretroviral Therapy

“…PIs modulate both the production of apoB particles and their clearance [2,10,20]. Notably, PI ART-related dyslipidemia resembles that observed in familial combined hyperlipidemia [21], suggesting a potential role for variation in lipoprotein genes that have been linked to this relatively common inherited dyslipidemia [22]. …”

Postprandial metabolic heterogeneity in men with primary dyslipidaemia

“…The FCH status was diagnosed according to widely used diagnostic criteria [10, 11]: a) TC and/or TG levels > 90 th percentile, adjusted for age and gender, on the basis of the PROCAM study [2], b) primary variability of the lipid phenotype in the patient and/or one member of the family, c) plasma apoB concentrations > 120 mg/dl, d) family history of myocardial infarction in a first degree relative age < 60 years, or in a second degree relative age < 50 years and e) absence of xanthomas.…”